Varaico: Literature-Extracted Genetic Variants

Gene:PRG2
Variant:p.P29S
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PRG2

NM_002728.6:p.P29S

Associated Papers

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

Jansen GA et al.

Human Mutation, 2004

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.

Mukherji M et al.

Human Molecular Genetics, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."